Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L275delFs
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PANK2

NM_001386393.1:p.L275delFs

Associated Papers

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Rao A et al.

Bmc Medical Genomics, 2018

29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ et al.

Npj Genomic Medicine, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."